RGD:11550603 Rat Genome Database

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Variant: RGD:11550603 -  Homo sapiens

RGD ID: 11550603
RS ID: rs766668907
ClinVar ID: CV256231
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PNPO  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 46,020,668
GRCh38 17 47,943,302
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_018129.4:c.139-4C>G
NG_008744.1:g.6780C>G
NC_000017.11:g.47943302C>G
NC_000017.10:g.46020668C>G
More... 		06/30/2016 intron variant likely benign|uncertain significance AllHighlyPenetrant; EPILEPTIC ENCEPHALOPATHY, NEONATAL, PNPO-RELATED; Pyridoxal 5'-phosphate-dependent epilepsy; Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency; Pyridoxine-5'-phosphate oxidase deficiency; SEIZURES, PYRIDOXINE-RESISTANT, PLP-SENSITIVE
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PNPO
Accession:NM_018129
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000251975 CLINVAR
  RCV001439801 CLINVAR
  RCV002317786 CLINVAR
dbSNP (RS) rs766668907 CLINVAR
MedGen C0950123 CLINVAR
  C1864723 CLINVAR
  CN169374 CLINVAR
NCBI Gene PNPO CLINVAR
OMIM 603287 CLINVAR
  610090 CLINVAR